Property Summary

NCBI Gene PubMed Count 231
PubMed Score 459.21
PubTator Score 589.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
osteosarcoma 1.738 1.7e-03
medulloblastoma, large-cell 1.200 4.8e-05
breast carcinoma -1.900 1.7e-03
fibroadenoma -2.400 4.9e-02
interstitial cystitis -2.300 7.0e-04
lung adenocarcinoma -2.300 2.2e-18
ductal carcinoma in situ -2.000 2.0e-02
ovarian cancer 1.200 1.7e-09
psoriasis -2.300 8.3e-51

Gene RIF (219)

PMID Text
26497787 Familial linkage studies for primary angle-closure glaucoma have been performed and identified MYOC causative primary angle-closure glaucoma disease
26396484 Glaucomatous MYOC mutations activate the IL-1beta/NF-kappaB inflammatory stress response and the glaucoma marker SELE in trabecular meshwork cells.
26313302 FAs, expression of fibrogenic markers, and myocilin in HTM cells. These characteristics of Hic-5 in TM cells indicate its importance in regulation of AH outflow through the TM in both normal and glaucomatous eyes.
26237198 All POAG samples underwent full sequencing of the MYOC gene, and we found a sensitivity of 100%, specificity of 99.91%, positive predictive value of 95.65%, and negative predictive value of 100% between imputation and sequencing.
26095806 A novel heterozygous missense mutation c.761C<G(p.P254R) in the MYOC gene was identified as being co-segregated with the primary open-angle glaucoma phenotype in this family.
25777973 Secondary structure prediction of the Ser341Pro MYOC gene mutation suggested that the MYOC protein was misfolded.
25711070 According to molecular genetic studies, MYOC causative gene involved in the development of Primary open-angle glaucoma.
25582056 Data show that predictive genetic testing for early onset Myocilin glaucoma can facilitate early detection of disease or discharge from routine ophthalmic examinations.
25524706 Mutations in myoc ofactomedin domain are causative in the autosomal dominant inherited form of the prevalent ocular disorder glaucoma.
25450062 The data suggest that the DEX-induced increase in MYOC expression activates a calcineurin and NFATc1 pathway in a calcium independent mechanism.
25330346 Overall, 3.3% of black South Africans with POAG have a Gly374Val or Tyr453del MYOC mutation. The Tyr453del mutation is incompletely penetrant.
25268471 Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population
25197353 TGF-beta2 induced MYOC expression and secretion in human primary cultured trabecular meshwork cells
25027323 The interaction of Grp94 with myocilin aggregates can be manipulated by cellular environment and genetics; this process can be exploited with Grp94 inhibitors to promote the clearance of toxic forms of myocilin.
24940937 The rate of CYP1B1 mutations in Lebanese patients with primary congenital glaucoma (PCG) is lower than that reported in other Arab and Middle Eastern populations and suggests other genes are responsible.
24883016 The Asn480Lys mutation and the IVS2 730+35 G>A polymorphism increased susceptibility to juvenile-onset open angle glaucoma in this large Malay pedigree.
24768183 the novel heterozygous single nucleotide transition MYOC:c.1119G>A, p.(Trp373), predicted to encode an aberrant truncated MYOC protein in two siblings affected by autosomal dominant primary open angle glaucoma
24766640 found no evidence to support a significant association between MYOC polymorphism and hgih myopia
24741044 This study demonistrated that myocilin as a novel positive regulator of oligodendrocyte differentiation in the optic nerve. In the absence of myocilin, oligodendrocyte differentiation is delayed in vivo.
24732711 The current study provided evidence that in normal homeostatic situation, the turnover of endogenous myocilin involves ubiquitin-proteasome and lysosomal pathways.
24563482 myocilin promotes cell proliferation and resistance to apoptosis via the ERK1/2 MAPK signaling pathway.
24417561 This study does not confirm a role for genetic variants in the MYOC, NR3C1 and FKBP5 genes in the pathogenesis of corticosteroid-induced ocular hypertension.
24406458 MYOC mutations are associated with primary open-angle glaucoma .
24333014 The glaucoma-associated olfactomedin domain of myocilin forms polymorphic fibrils that are constrained by partial unfolding and may contribute to glaucoma pathogenesis.
24003086 This is the largest TM expression study of POAG cases and controls performed to date and represents the first report of TM expression in a patient having POAG with a Q368X MYOC mutation.
23886590 A novel severe Juvenile Open Angle Glaucoma disease causing mutation in the MYOC gene.
23764838 The study showed that the peptide DQLETQTRELETAYSNLLRD corresponding to N-terminal Leucine zipper motif (LZM) of the protein is able to form amyloid-like fibrils.
23629661 Myocilin also stimulated osteogenic differentiation of wild-type MSCs, which was associated with activation of the p38, Erk1/2, and JNK MAP kinase signaling pathways
23566828 The in-frame MYOC c.1187_1188insCCCAGA mutation causes juvenile-onset open-angle glaucoma in a Brazilian family.
23517641 Our results using human patient samples are consistent with a dominant-negative effect of pathogenic MYOC mutations on myocilin secretion.
23453510 The prevalence of Myocilin mutations in glaucoma cases with severe visual field loss is significantly greater than in nonadvanced glaucoma patients.
23304066 Compound heterozygote for the Gln368STOP and Thr377Met MYOC mutations has been described in a pedigree with high prevalence of primary open-angle glaucoma.
23218701 This study analyzed CYP1B1, LTBP2, and MYOC mutations in a cohort of primary congenital glaucoma patients from the United States, applying whole exome sequencing
23129764 The glaucoma-associated olfactomedin domain of myocilin is a novel calcium binding protein.
23035116 Grp94 triages mutant myocilin through endoplasmic reticulum-associated degradation.
23029558 There is strong evidence that myocilin polymorphisms are associated with primary open-angle glaucoma susceptibility. [Meta-analysis]
23028769 Mutant CYP1B1, lacking the 17beta estradiol metabolizing activity, can cause MYOC upregulation, which might have a potential implication in glaucoma pathogenesis.
22942166 CYP1B1 may act as a modifier of MYOC expression and a mutation in both genes was related to the early onset of juvenile open angle glaucoma.
22933836 Two novel probable glaucoma-causing MYOC mutations (Thr209Asn and Leu215Gln) have been identified in an African American population with primary open-angle glaucoma.
22879734 A probable causative novel MYOC missense mutation, Gly326Ser, was found in one POAG case and a consistent genotype-phenotype correlation in eight of his relatives.
22876119 A novel MYOC mutation D384G is likely responsible for the pathogenesis of primary open-angle glaucoma in a Chinese Uygur pedigree.
22809227 Our results confirm that the PAX6, Lumican, and MYOC genes were not associated with high myopia in the Han Chinese in Northeastern China.
22736945 MYOC mutations were found to account for 3% of POAG cases in east Indian POAG cohort (n=765), and Gln48His is the most common defect.
22615763 findings provide a new molecular understanding of the mechanisms of MYOC-causative glaucoma and reveal CSTA, a serum biomarker for cancer, as a potential biomarker and drug for the treatment of MYOC-induced glaucoma
22550394 MYOC expression is not altered in the blood of POAG patients, unlike MYOC expression in trabecular meshwork (TM) cultures.
22463803 A coiled-coil segment of myocilin is identified with homology to human Q-SNARE proteins.
22247475 cells grown on TCP produced greater or similar amounts of SPARC and myocilin mRNA after Lat-B treatment. SPARC and myocilin protein expression paralleled changes in mRNA expression.
22197377 this work provides new insights into and raises new questions about the molecular properties of the highly conserved myocilin OLF domain, and suggests a novel protein-based hypothesis for glaucoma pathogenesis for further testing in a clinical setting
22194650 The MYOC Gln48His mutation was observed among 2 primary open angle glaucoma patients from Chennai, Tamil Nadu, South India.
21850185 In the MYOC gene, two variants of unknown significance (p.L228S and p.E240G) were identified in two Korean patients with primary congenital glaucoma.
21677793 Pro370Leu myocilin mutation has been identified in a Chinese pedigree with juvenile-onset open angle glaucoma.
21656515 Myocilin, a glaucoma-associated protein, promotes cell migration through activation of integrin-focal adhesion kinase-serine/threonine kinase signaling pathway.
21655360 One MYOC heterozygous mutation and four single nucleotide polymorphisms in MYOC and CYP1B1 genes were found which are associated with primary open-angle glaucoma in a Chinese pedigree.
21552496 The Gly374Val mutation might represent a novel glaucoma-causing mutation in black South Africans with primary open-angle glaucoma (POAG). The Tyr453MetFSX11 mutation appears to be a glaucoma-causing mutation with incomplete penetrance.
21426841 G12R is the most common mutation in MYOC locus in Chinese subjects with primary open-angle glaucoma.
21203411 Polymorphisms in the myocilin genomic region that cause synonymous codon changes or those that occur in the intron regions can possibly lead to altered myocilin protein products through altered intron-exon splicing.
21174523 The G allele of the MYOC mt.1 promoter polymorphism was equally distributed among POAG patients and healthy subjects and it is possibly unrelated to the risk and severity of disease in the Brazilian population.
21168818 The phenotype and spectrum of the CYP1B1 and MYOC mutation roles in the clinical characteristics of primary congenital glaucoma varied according to ethnicity.
21031026 MYOC and FOXC1 mutations are not involved in pathogenesis of primary congenital glaucoma patients.
21031026 Observational study of gene-disease association. (HuGE Navigator)
20806035 Early onset juvenile-onset open angle glaucoma, with incomplete penetrance, is consistent with a novel mutation in MYOC.
20801516 Observational study of genetic testing. (HuGE Navigator)
20668460 Neither MYOC nor OPTN sequence variants seem to have a major role in the etiology of POAG in this population.
20668460 Observational study of gene-disease association. (HuGE Navigator)
20664688 These results demonstrate the diversity of CYP1B1 mutations, while suggesting a modest role of MYOC in Moroccan primary congenital glaucoma.
20447966 data suggest that MYOC overexpression is not a cause or an effect of intraocular pressure elevation and that MYOC itself is not associated with open-angle glaucoma.
20447966 Observational study of gene-disease association. (HuGE Navigator)
20198978 Observational study of gene-disease association. (HuGE Navigator)
20107173 In this cohort, the Thr377Met MYOC mutation was significantly associated with both high intraocular pressures and high vertical cup-to-disc ratios. No association was found with central corneal thickness.
20021252 In the primary open angle glaucoma family described here, we documented a wide range in clinical symptoms, demonstrating a highly variable penetrance of the MYOC p.Gln368X mutation.
19784393 A novel mutation (Y371D) was identified in MYOC from a Caucasian family who presented with an aggressive form of juvenile open-angle glaucoma.
19688280 The MYOC c.1084G>- may contribute to a genetic predisposition to primary open-angle glaucoma.
19668597 This study was designed to analyze two candidate genes, myocilin (MYOC) and cytochrome P450 1B1 (CYP1B1), in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.
19662433 In some cases of primary open-angle glaucoma (POAG). the structural changes in the juxtacanalicular tissue (JCT) include an increase in myocilin in the extracellular pathways of aqueous humor.
19407846 Observational study of gene-disease association. (HuGE Navigator)
19390644 Findings suggested that Pro370Leu mutant myocilin causes mitochondrial defects, which may lead to trabecular meshwork cell dysfunction and even cell death.
19287508 the ER localization of wild-type myocilin is likely a consequence of its incomplete secretion due to its misfolding.
19260140 studied the association between genetic variants in myocilin and collagen type I alpha 1 genes and high myopia in an isolated island population.
19260140 Observational study of gene-disease association. (HuGE Navigator)
19234343 The results indicate that TMAO (trimethylamine N-oxide), with chaperoning activity, facilitated the folding and secretion of mutant MYOC. This therapeutic approach assisted by a chemical chaperone can be developed for treating glaucoma.
19188438 myocilin induced the formation of stress fibers; myocilin modulates Wnt signaling by interacting with components of signaling pathwaysin the eye
19180258 results suggest that MYOC polymorphisms have a very low, or possibly negligible, influence on high myopia susceptibility in subjects of European ethnicity
19180258 Observational study of gene-disease association. (HuGE Navigator)
19148291 aggregation of MYOC in the endoplasmic reticulum activates the unfolded protein response, which may be associated with ocular hypertension
19145250 Observational study of gene-disease association. (HuGE Navigator)
19096718 Observational study of gene-disease association. (HuGE Navigator)
19023451 Increased extracellular levels of mutant myocilin expressed in heterozygosis may play a relevant role in glaucoma pathogenesis.
18952665 study found a previously reported mutation (T377M) in nine of 16 cases of glaucoma in in Veli Brgud, Croatia and in none of the controls; mutation was absent in six controls and two cases
18852424 MYOC mutations is associated with primary congenital glaucoma in Chinese population.
18852424 Observational study of gene-disease association. (HuGE Navigator)
18841557 possible role of MYOC and CYP1B1 in the development of PACG
18776955 Pro13Leu and Gln337Stop mutations of MYOC are likely responsible for the etiology of primary open-angle glaucoma.
18728751 This is the first evidence of a founder effect for a Pro370Leu myocilin mutation in a Chinese primary open angle glaucoma pedigree.
18591929 results suggest that MYOC.mt1 polymorphism does not have significant influence on the risk of primary open-angle glaucoma development or its severity [review]
18537981 Observational study of gene-disease association. (HuGE Navigator)
18449353 The incidence of glaucoma and the Thr377Met MYOC mutation in this population is much higher than that reported for other European populations.
18449353 Observational study of gene-disease association. (HuGE Navigator)
18436825 Expression of equivalent levels of mutated human or mouse myocilin in the eyes of transgenic mice produce comparable pathologic changes that are similar to those observed in patients with glaucoma.
18427622 RNA interference may have future therapeutic implications in suppressing MYOC and its related cytotoxicity.
18385784 MYOC and CYP1B1 contributed equally to the disease status of the Iranian juvenile open angle glaucoma patients studied. The contribution of the two genes appeared to be independent in that no patient carried mutations in both genes.
18334962 Two sequence variants were identified, one novel non-synonymous amino acid change (p.Gln297His) and one reported synonymous amino acid change (p.Ala363Thr).
18334962 Observational study of gene-disease association. (HuGE Navigator)
18303389 In the study of MYOC variants in 11 POAG Peruvian families, we have found a family of ethnically admixed origin with polymorphism Arg76Lys and of Andean descent.
18214788 Genetic linkage analyses have helped establish the association between JOAG (Juvenile-onset open-angle glaucoma) and the myocilin gene (MYOC).
18195223 Timolol can reduce MYOC RNA levels in HTM cultures from some individuals. Timolol does not alter OPTN or WDR36 levels or ameliorate MYOC induction by dexamethasone in vitro.
17984096 Results demonstrate that myocilin has a de-adhesive activity and triggers signaling events, and the cAMP/PKA activation and the downstream Rho inhibition are possible mechanisms by which myocilin may lead to trabecular meshwork cell or tissue damage.
17966125 Preliminary data generated from this online resource highlight the strong genotype-phenotype correlations associated with specific myocilin mutations.
17960117 Novel MYOC mutation, p.Phe430Leu. Pathogenic nature of this mutation is suggested by severe phenotype of mutant patients and mistrafficking of mutant protein as observed for other severe disease-causing mutations of MYOC.
17893668 First evidence of founder effect for a MYOC mutation in Spanish juvenile-onset open angle glaucoma patients.
17893664 Observational study of gene-disease association. (HuGE Navigator)
17893664 results indicate that the c.136C>T (Arg46Stop), c.158T>C (Val56Ala), c.604+228A>T, and c.1515+73G>C mutations of MYOC may be associated with juvenile-onset open-angle glaucoma
17867509 MYOC Ser341Pro mutation was observed in a family with primary open-angle glaucoma.
17679945 These results suggest that Gly367Arg is a potential mutation that causes malfunction of TM cells either by dominant negative effect or gain of function of mutant myocilin.
17663725 These results indicate that interaction exists between OPTN and MYOC genes.
17650508 analysis of the intracellular proteolytic cleavage of myocilin and identification of calpain II as a myocilin-processing protease
17615537 Observational study of genotype prevalence. (HuGE Navigator)
17615537 In Spain, a minority of adult-onset ocular hypertension (OHT) primary open-angle glaucoma (POAG) patients carry heterozygous disease-causing mutations in the MYOC gene and OPTN is not involved in either OHT or POAG.
17605937 Myocilin Gln368STOP mutation might be associated with the increased risk of primary open angle glaucoma.
17605937 Meta-analysis of gene-disease association. (HuGE Navigator)
17563717 Observational study of gene-disease association. (HuGE Navigator)
17563717 3.59% of our primary open-angle glaucoma patients had mutations in the CYP1B1, MYOC, and OPTN genes; first report to document the involvement of the CYP1B1, MYOC, and OPTN genes in the etiology of POAG in the same set of Indian patients
17562996 Observational study of gene-disease association. (HuGE Navigator)
17562996 One novel mutation (Gly399Asp), 6 reported mutations (Gln48His, Thr256Met, Thr353Ile, Gln368Stop, Pro370Leu, and Ala427Thr), and 6 single nucleotide polymorphisms were identified in MYOC.
17516541 Mitochondrial association of MYOC in human trabecular meshwork cells is reported.
17499207 This family with an Asp380His myocilin mutation presents with an intermediate phenotype between juvenile- and adult-onset glaucoma.
17438518 Observational study of gene-disease association. (HuGE Navigator)
17438518 SNP rs235858 at the 3' flanking region showed the highest degree of confidence for association.
17417611 Observational study of genotype prevalence. (HuGE Navigator)
17417611 Two probable disease-causing variations (mutations), Ser331Thr and Pro370Leu, were each observed in one patient apiece. Two polymorphisms, (Tyr347Tyr and Thr325Thr) were also observed in the patients.
17417609 Thr377Met myocilin mutation has arisen at least three separate times. Evidence for genetic founder effects in this prevalent age-related, yet heterogeneous, disease has important implications for future gene identification strategies.
17321191 glaucoma-associated genes (MYOC, CYP1B1) expressed in the ciliary body and their mutant proteins could influence intraocular pressure, contributing to the development of glaucoma.
17317787 study shows mutation-dependent, gain-of-function association between myocilin & PTS1R; there was correlation between glaucoma phenotype & specific MYOC mutations, with more severe early-onset POAG mutations having higher degree of association with PTS1R
17304254 A Gly367Arg mutation was detected of in the MYOC gene of 13 family members of this Swiss pedigree.
17224759 This is the first report of molecular genetic analysis of PCG (primary congenital glaucoma) in the Egyptian population in which 2 novel mutations have been identified.
17210859 Our work suggests that the disease associated with MYOC Gly252Arg is less severe than previously described in other pedigrees with this specific mutation.
17197538 No major structural or morphologic difference of the ONH was detected in pooled data from subjects who had myocilin mutations compared with data from individuals with nonmyocilin glaucoma.
17122126 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17122126 The Arg144Gln mutation in OLFM2 is a possible disease-causing mutation in Japanese patients with OAG. Common polymorphisms in OLFM2 and OPTN may interactively contribute to the development of OAG, indicating a polygenic etiology.
16902400 The bacterial and eukaryotic recombinant full length myocilin produced similar biological consequence on trabecular meshwork cells. Phenotype largely due to the NH(2)-terminal half.
16688110 Observational study of gene-disease association. (HuGE Navigator)
16681888 Observational study of gene-disease association. (HuGE Navigator)
16636654 The Pro370Leu mutation of the MYOC gene contributed to JOAG in this pedigree.
16458712 Neither the individual homozygous for the Gln368STOP myocilin mutation nor her younger heterozygous siblings displayed any signs suggestive of glaucoma.
16431959 Individuals carrying both the MYOC T377M variant and the GLC1C haplotype were more severely affected at an earlier age than individuals with just one of the POAG (primary open-angle glaucoma) genes
16401791 The Cys245Tyr MYOC mutation was the genetic cause of JOAG (juvenile-onset open-angle glaucoma) in this Chinese family.
16392033 Results show that myocilin and gamma-synuclein interact and as a result, myocilin's properties are changed.
16374045 Primary open-angle glaucoma (POAG) is genetically heterogeneous, with 6 named POAG loci GLC1A-F mapped and genes myocilin (MYOC) and optineurin (OPTN) identified at 2 of the loci.
16358725 Observational study of gene-disease association. (HuGE Navigator)
16316624 Overall, these results suggested that the C-t of hevin contains important determinants for interaction with myocilin.
16280977 Observational study of gene-disease association. (HuGE Navigator)
16280977 Our results suggest that in our Turkish glaucoma patients, MYOC.mt1 is not a risk factor for the development of POAG and is not associated with the phenotype and severity of glaucoma.
16226543 The same disease haplotype for the Q368STOP mutation of the myocilin gene was found in both the Tasmanian and French Canadian populations, supporting the view that this mutation arose from a common Caucasian founder.
16198165 The alteration of the interaction by mutations in MYOC might be a key factor of the pathogenesis of POAG
16148883 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
15953455 Observational study of genotype prevalence. (HuGE Navigator)
15944158 MYOC appears in the extracellular space of trabecular meshwork cells by an unconventional mechanism, likely associated with exosome-like vesicles
15851979 The findings in the current study provide further evidence that MYOC and OPTN gene variants are rare causes of NTG (normal tension glaucoma).
15823921 Our results further support the evidence that the Thr377Met mutation in MYOC may represent a susceptibility allele for glaucoma.
15795224 endoproteolytic processing might regulate the activity of myocilin; the inhibition of the processing by pathogenic mutations impairs the normal role of myocilin
15733270 Observational study of genotype prevalence. (HuGE Navigator)
15733270 observations suggest a possible role of MYOC in primary congenital glaucoma, which might be mediated via digenic interaction with CYP1B1 and/or an yet unidentified locus associated with the disease
15723004 Observational study of gene-disease association. (HuGE Navigator)
15723004 The myocilin mutation, Gln48His, represents an allelic condition involving a spectrum of glaucoma phenotypes in Indian populations.
15652337 Myocilin impaired focal adhesion formation and specifically blocked the incorporation of paxillin, but not vinculin, into focal adhesions.
15646469 Observational study of genotype prevalence. (HuGE Navigator)
15534471 Observational study of gene-disease association. (HuGE Navigator)
15534471 Mutations in the MYOC gene were demonstrated chromatographically in 2.9% of our Japanese primary open-angle glaucoma patients.
15483649 Observational study of genotype prevalence. (HuGE Navigator)
15483649 five primary open angle glaucoma patients with sequence variants in the consensus region of the promoter. These sequence variants might be involved in the altered association between the consensus region and the corresponding transcription factor.
15354075 Observational study of gene-disease association. (HuGE Navigator)
15354075 in Chinese, polymorphisms in MYOC promoter are not related to risk of primary open-angle glaucoma (POAG). No association between MYOC.mt1 promoter polymorphism with severity of POAG.
15342693 Observational study of gene-disease association. (HuGE Navigator)
15338275 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
15255110 This study reports a novel missense mutation in a four-generation Indian family with all but one member affected with J-POAG (juvenile-onset primary open-angle glaucoma).
15194423 When the myocilin expression was increased, the transfectants showed a dramatic loss of actin stress fibers and focal adhesions. Cell adhesion to fibronectin and spreading were also compromised.
15161538 Observational study of gene-disease association. (HuGE Navigator)
15137056 Extracellular myocilin affects activity of trabecular meshwork cells.
15025728 A novel mutation in exon 1 (144 G-->Alpha) resulting in Gln48His substitution was observed in 2% of the patients; this mutation was found to alter the secondary structure in the glycosaminoglycan initiation site of the protein
14767915 Observational study of gene-disease association. (HuGE Navigator)
14767915 The polymorphisms of the MYOC gene may be related to primary open-angle glaucoma.
14740993 Many groups worldwide have confirmed the presence of probable disease-causing mutations in the coding region of the (TIGR/MYOC) gene associated with glaucoma.
14688426 Observational study of gene-disease association. (HuGE Navigator)
14688426 Definitive evidence of MYOC variants associated with NTG (normal tension glaucoma) was not found
14680806 Therefore, our results support the statement that gain of function rather than haploinsufficiency is a critical mechanism for primary open-angle glaucoma in individuals with mutations on MYOC.
12912696 The GLC1A Thr377Met mutation is associated with POAG (primary open-angle glaucoma)
12872267 Observational study of gene-disease association. (HuGE Navigator)
12872267 Four novel MYOC missense mutations in French Primary open-angle glaucoma patients which are associated with increased intraocular pressure.
12868033 Observational study of gene-disease association. (HuGE Navigator)
12868033 polymorphisms in myocilin gene is associated with primary open-angle glaucoma
12860809 Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.
12851728 We identified a previously unreported GGT right curved arrow GAT transition at codon 451 in exon 3, resulting in a glycine to asparagine substitution in one POAG patient.
12817590 APOE interacts at a highly significant level with a single nucleotide polymorphism of MYOC, a known glaucoma-causing gene.
12789574 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
12782842 Carriers of the myocilin Thr377Met mutation have reduced outflow facility, which may be detected prior to developing glaucoma.
12671463 The Cys433Arg mutation in this pedigree was associated with a phenotype characterized by early-onset open-angle glaucoma
12671462 A family with a myocilin (MYOC) gene mutation ascertained on the basis of the phenotype of the 71-year-old proband with juvenile-onset primary open-angle glaucoma (JOAG).
12615070 the olfactomedin-domain of myocilin contains a single disulphide-bond connecting Cys-245 and Cys-433 residues; secondary structure predictions and circular dichroism studies indicate that it consists primarily of beta-strands
12522550 Q368STOP mutation of myocilin is associated with primary open-angle glaucoma in Australia
12504739 Myocilin mutations are associated with 3-4% of POAG in patient populations worldwide.
12470758 Observational study of gene-disease association. (HuGE Navigator)
12447164 Two single nucleotide polymorphisms (SNPs) were identified in MYOC gene of Indian primary open angle glaucoma patients.
12442283 Five novel mutations, namely Gly434Ser, Asn450Asp, Val251Ala, Ile345Met and Ser393Asn, could be identified as cause of preperimetric POAG, JOAG, normal tension POAG and POAG.
12411077 Observational study of gene-disease association. (HuGE Navigator)
12362081 Observational study of gene-disease association. (HuGE Navigator)
12362081 A total of 4.4% of patients with POAG have novel disease-associated mutations in myocilin.
12356829 Observational study of gene-disease association. (HuGE Navigator)
12215093 Observational study of gene-disease association. (HuGE Navigator)
12190780 Observational study of gene-disease association. (HuGE Navigator)
12126543 Observational study of gene-disease association. (HuGE Navigator)
12060848 results indicate an age independence, argue thus against a direct role of myocilin and reiterate the involvement of additional factors in the pathogenesis of glaucoma
12019210 Optimedin and myocilin interact with each other in vitro
11992263 Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene
11910561 Mutation in the myocilin gene is not the common cause for glaucoma in Uganda
11853639 Observational study of gene-disease association. (HuGE Navigator)
11774072 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11774072 digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene, and MYOC mutational analysis
11738824 Myocilin is shown here to undergo a post-transcriptional modification event, giving rise to deletion forms, their upregulation by dexamethasone provide support for a possible role in steroid-induced glaucoma.
11595024 Observational study of gene-disease association. (HuGE Navigator)
11133859 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MRFFCARCCSFGPEMPAVQLLLLACLVWDVGARTAQLRKANDQSGRCQYTFSVASPNESSCPEQSQAMSV      1 - 70
IHNLQRDSSTQRLDLEATKARLSSLESLLHQLTLDQAARPQETQEGLQRELGTLRRERDQLETQTRELET     71 - 140
AYSNLLRDKSVLEEEKKRLRQENENLARRLESSSQEVARLRRGQCPQTRDTARAVPPGSREVSTWNLDTL    141 - 210
AFQELKSELTEVPASRILKESPSGYLRSGEGDTGCGELVWVGEPLTLRTAETITGKYGVWMRDPKPTYPY    211 - 280
TQETTWRIDTVGTDVRQVFEYDLISQFMQGYPSKVHILPRPLESTGAVVYSGSLYFQGAESRTVIRYELN    281 - 350
TETVKAEKEIPGAGYHGQFPYSWGGYTDIDLAVDEAGLWVIYSTDEAKGAIVLSKLNPENLELEQTWETN    351 - 420
IRKQSVANAFIICGTLYTVSSYTSADATVNFAYDTGTGISKTLTIPFKNRYKYSSMIDYNPLEKKLFAWD    421 - 490
NLNMVTYDIKLSKM                                                            491 - 504
//

Text Mined References (239)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26497787 2015 Advances in glaucoma genetics.
26396484 2015 Glaucomatous MYOC mutations activate the IL-1/NF-?B inflammatory stress response and the glaucoma marker SELE in trabecular meshwork cells.
26313302 2015 Hic-5 Regulates Actin Cytoskeletal Reorganization and Expression of Fibrogenic Markers and Myocilin in Trabecular Meshwork Cells.
26237198 2015 Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma.
26095806 2015 Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.
25777973 2015 Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.
25711070 [Genetic studies of primary open-angle glaucoma].
25582056 2015 Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma.
25524706 2015 Structural basis for misfolding in myocilin-associated glaucoma.
25450062 2015 NFATc1 activity regulates the expression of myocilin induced by dexamethasone.
25330346 2015 MYOC mutations in black south african patients with primary open-angle glaucoma: genetic testing and cascade screening.
25268471 2015 Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population.
25197353 2014 Effects of transforming growth factor-?2 on myocilin expression and secretion in human primary cultured trabecular meshwork cells.
25027323 2014 Exploiting the interaction between Grp94 and aggregated myocilin to treat glaucoma.
24940937 2016 Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study.
24883016 2014 Identification of MYOC gene mutation and polymorphism in a large Malay family with juvenile-onset open angle glaucoma.
24768183 2014 Identification of a novel MYOC mutation, p.(Trp373), in a family with open angle glaucoma.
24766640 2014 Evaluation of MYOC, ACAN, HGF, and MET as candidate genes for high myopia in a Han Chinese population.
24741044 2014 Myocilin is involved in NgR1/Lingo-1-mediated oligodendrocyte differentiation and myelination of the optic nerve.
24732711 2014 Cellular processing of myocilin.
24563482 2014 Myocilin regulates cell proliferation and survival.
24417561 2015 Analyses of Sequence Variants in the MYOC Gene and of Single Nucleotide Polymorphisms in the NR3C1 and FKBP5 Genes in Corticosteroid-Induced Ocular Hypertension.
24406458 2014 Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma.
24333014 2014 The glaucoma-associated olfactomedin domain of myocilin forms polymorphic fibrils that are constrained by partial unfolding and peptide sequence.
24003086 2013 Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma.
23897819 2013 Myocilin mediates myelination in the peripheral nervous system through ErbB2/3 signaling.
23886590 2013 The novel heterozygous Thr377Arg MYOC mutation causes severe Juvenile Open Angle Glaucoma in a large Pakistani family.
23764838 Amyloidogenic peptide homologous to fragment 129-148 of human myocilin.
23629661 2013 Myocilin stimulates osteogenic differentiation of mesenchymal stem cells through mitogen-activated protein kinase signaling.
23566828 2013 New mutation in the myocilin gene segregates with juvenile-onset open-angle glaucoma in a Brazilian family.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23517641 2013 A de novo MYOC mutation detected in juvenile open angle glaucoma associated with reduced myocilin protein in aqueous humor.
23453510 2013 Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry.
23304066 2012 Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma.
23218701 2013 CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.
23129764 2012 The glaucoma-associated olfactomedin domain of myocilin is a novel calcium binding protein.
23035116 2012 Glucose-regulated protein 94 triage of mutant myocilin through endoplasmic reticulum-associated degradation subverts a more efficient autophagic clearance mechanism.
23029558 2012 Myocilin polymorphisms and primary open-angle glaucoma: a systematic review and meta-analysis.
23028769 2012 Molecular basis for involvement of CYP1B1 in MYOC upregulation and its potential implication in glaucoma pathogenesis.
22942166 2012 A clinical and molecular genetics study of primary congenital glaucoma in South Korea.
22933836 2012 Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.
22879734 2012 Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population.
22876119 2012 A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.
22809227 2012 Ten SNPs of PAX6, Lumican, and MYOC genes are not associated with high myopia in Han Chinese.
22736945 2012 Comprehensive analysis of myocilin variants in east Indian POAG patients.
22615763 2012 Cystatin a, a potential common link for mutant myocilin causative glaucoma.
22550394 2012 Unaltered myocilin expression in the blood of primary open angle glaucoma patients.
22463803 2012 Myocilin, a component of a membrane-associated protein complex driven by a homologous Q-SNARE domain.
22247475 2012 Substratum stiffness and latrunculin B regulate matrix gene and protein expression in human trabecular meshwork cells.
22197377 2012 Amyloid fibril formation by the glaucoma-associated olfactomedin domain of myocilin.
22194650 2011 Myocilin mutations among POAG patients from two populations of Tamil Nadu, South India, a comparative analysis.
21850185 2011 Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.
21677793 2011 Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma.
21656515 2011 Myocilin, a glaucoma-associated protein, promotes cell migration through activation of integrin-focal adhesion kinase-serine/threonine kinase signaling pathway.
21655360 2011 Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma.
21552496 2011 Myocilin mutations in black South Africans with POAG.
21426841 2011 [Study on MYOC/TIGR gene mutations in primary open-angle glaucoma].
21362503 2011 Protein profile of exosomes from trabecular meshwork cells.
21203411 2010 Polymorphisms in an intronic region of the myocilin gene associated with primary open-angle glaucoma--a possible role for alternate splicing.
21174523 2011 Myocilin mt.1 gene promoter single nucleotide polymorphism (-1000C>G) in Brazilian patients with primary open angle glaucoma.
21168818 2011 Genotype/phenotype correlation in primary congenital glaucoma patients from different ethnic groups of the Israeli population.
21031026 2010 MYOC and FOXC1 gene analysis in primary congenital glaucoma.
20806035 2010 Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20668460 2010 Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.
20664688 2010 Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
20447966 2010 Little evidence for association of the glaucoma gene MYOC with open-angle glaucoma.
20198978 2009 [Genetic variants of CYP1B1 and WDR36 in the patients with primary congenital glaucoma and primary open angle glaucoma from Saint-Petersburg].
20107173 2010 Association of POAG risk factors and the Thr377Met MYOC mutation in an isolated Greek population.
20021252 2010 Variable clinical spectrum of the myocilin Gln368X mutation in a Dutch family with primary open angle glaucoma.
19959812 2010 Differential effects of myocilin and optineurin, two glaucoma genes, on neurite outgrowth.
19784393 2009 The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East.
19688280 2010 New mutation in the MYOC gene and its association with primary open-angle glaucoma in a Chinese family.
19668597 2009 Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.
19662433 2009 Myocilin in the trabecular meshwork of eyes with primary open-angle glaucoma.
19407846 2010 Prevalence of myocilin gene mutations in a novel UK cohort of POAG patients.
19390644 2009 Pro370Leu mutant myocilin impairs mitochondrial functions in human trabecular meshwork cells.
19287508 2009 Dual localization of wild-type myocilin in the endoplasmic reticulum and extracellular compartment likely occurs due to its incomplete secretion.
19260140 2009 Common variant in myocilin gene is associated with high myopia in isolated population of Korcula Island, Croatia.
19234343 2009 Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte.
19188438 2009 Myocilin is a modulator of Wnt signaling.
19180258 2009 Myocilin polymorphisms and high myopia in subjects of European origin.
19148291 2009 Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma.
19145250 2009 Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese.
19096718 2008 Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol.
19023451 2008 Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin.
18952665 2008 High prevalence of glaucoma in Veli Brgud, Croatia, is caused by a dominantly inherited T377M mutation in the MYOC gene.
18855004 2009 Myocilin promotes substrate adhesion, spreading and formation of focal contacts in podocytes and mesangial cells.
18852424 2008 CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma.
18841557 2008 [Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma].
18776955 2008 Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma.
18728751 2008 Pro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype.
18591929 2008 Association between MYOC.mt1 promoter polymorphism and risk of primary open-angle glaucoma: a systematic review and meta-analysis.
18537981 2008 Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.
18449353 2008 Myocilin variations and familial glaucoma in Taxiarchis, a small Greek village.
18436825 2008 Transgenic mice expressing the Tyr437His mutant of human myocilin protein develop glaucoma.
18427622 2007 Suppression of keratoepithelin and myocilin by small interfering RNA (an American Ophthalmological Society thesis).
18385784 2008 Contributions of MYOC and CYP1B1 mutations to JOAG.
18334962 2008 Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma.
18303389 Recurrent Myocilin Asn480Lys glaucoma causative mutation arises de novo in a family of Andean descent.
18214788 Clinical and genetic characteristics of primary juvenile-onset open-angle glaucoma (JOAG).
18195223 2008 Effects of timolol on MYOC, OPTN, and WDR36 RNA levels.
17984096 2008 Rho GTPase and cAMP/protein kinase A signaling mediates myocilin-induced alterations in cultured human trabecular meshwork cells.
17966125 2008 Myocilin allele-specific glaucoma phenotype database.
17960117 2007 Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands.
17893668 2007 MYOC gene mutations in Spanish patients with autosomal dominant primary open-angle glaucoma: a founder effect in southeast Spain.
17893664 2007 Identification of mutations in the myocilin (MYOC) gene in Taiwanese patients with juvenile-onset open-angle glaucoma.
17867509 2007 [Investigation on the mutation of MYOC gene in two family pedigrees with primary open-angle glaucoma in Shanxi].
17679945 2007 In vitro and in vivo study on the secretion of the Gly367Arg mutant myocilin protein.
17663725 2007 Interaction between two glaucoma genes, optineurin and myocilin.
17650508 2007 Characterization of the intracellular proteolytic cleavage of myocilin and identification of calpain II as a myocilin-processing protease.
17615537 2007 Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.
17605937 2007 [Meta-analysis on the association of Myocilin Q368X mutation and primary open angle glaucoma].
17563717 2007 Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.
17562996 2007 Myocilin variants in Indian patients with open-angle glaucoma.
17516541 2007 Mitochondrial association of myocilin, product of a glaucoma gene, in human trabecular meshwork cells.
17499207 2007 Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.
17438518 2007 Linkage and association of myocilin (MYOC) polymorphisms with high myopia in a Chinese population.
17417611 2007 Myocilin mutations among primary open angle glaucoma patients of Kanyakumari district, South India.
17417609 2007 Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds.
17321191 2007 New perspectives in aqueous humor secretion and in glaucoma: the ciliary body as a multifunctional neuroendocrine gland.
17317787 2007 Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.
17304254 2008 Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation.
17224759 2007 A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).
17210859 2007 Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.
17197538 2007 The optic nerve head in myocilin glaucoma.
17122126 2006 SNPs and interaction analyses of noelin 2, myocilin, and optineurin genes in Japanese patients with open-angle glaucoma.
16902400 2006 Optimized bacterial expression of myocilin proteins and functional comparison of bacterial and eukaryotic myocilins.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16688110 2006 Primary role of CYP1B1 in Indian juvenile-onset POAG patients.
16681888 2006 [Polymorphisms of myocilin and optineurin in primary open angle glaucoma patients].
16636654 2006 Presymptomatic genetic diagnosis for consulters from a large Chinese family with juvenile open angle glaucoma.
16458712 2006 A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases.
16431959 2006 A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability.
16401791 2006 Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma.
16392033 2005 Interaction of myocilin with gamma-synuclein affects its secretion and aggregation.
16374045 2006 Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family.
16358725 2005 [Mutations and polymorphisms in the genes for myocilin and optineur in as the risk factors of primary open-angle glaucoma].
16316624 2006 Interaction of myocilin with the C-terminal region of hevin.
16289162 2006 The identification of myocilin-associated proteins in the human trabecular meshwork.
16280977 2005 Myocilin mt1 promoter polymorphism in Turkish patients with primary open angle glaucoma.
16226543 2005 A common disease haplotype for the Q368STOP mutation of the myocilin gene in Australian and Canadian glaucoma families.
16198165 2005 Identification of flotillin-1 as a protein interacting with myocilin: implications for the pathogenesis of primary open-angle glaucoma.
16148883 2005 SNPs and interaction analyses of myocilin, optineurin, and apolipoprotein E in primary open angle glaucoma patients.
15953455 2005 The Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study.
15944158 2005 Extracellular trafficking of myocilin in human trabecular meshwork cells.
15851979 2005 Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients.
15823921 2005 Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma.
15795224 2005 Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg226 and Ile227.
15733270 2005 Myocilin gene implicated in primary congenital glaucoma.
15723004 2005 Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India.
15652337 2005 Myocilin binding to Hep II domain of fibronectin inhibits cell spreading and incorporation of paxillin into focal adhesions.
15646469 2004 [Study of TIGR gene in patients with primary open angle glaucoma].
15534471 2004 Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15483649 2005 Mutations including the promoter region of myocilin/TIGR gene.
15354075 2004 Polymorphisms in the myocilin promoter unrelated to the risk and severity of primary open-angle glaucoma.
15342693 2004 CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
15338275 2004 Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing.
15255110 2004 Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma.
15194423 2004 Overexpression of myocilin in cultured human trabecular meshwork cells.
15161538 2004 Genetic and environmental risk factors for primary open-angle glaucoma.
15137056 2004 Extracellular myocilin affects activity of human trabecular meshwork cells.
15025728 2004 Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients.
14767915 2004 [Single nucleotide polymorphisms of the myocilin gene in primary open-angle glaucoma patients].
14740993 2003 Current perspectives on the TIGR/MYOC gene (Myocilin) and glaucoma.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14688426 Variants of the myocilin gene in Japanese patients with normal-tension glaucoma.
14680806 2003 Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells.
12912696 2003 Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.
12872267 2003 Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation.
12868033 2003 Mutational analysis of the Myocilin gene in patients with primary open-angle glaucoma in Morocco.
12860809 2003 Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.
12851728 2003 Identification of a new GLC1A mutation in a sporadic, primary open-angle glaucoma in Japan.
12817590 2003 Single-nucleotide polymorphisms and glaucoma severity.
12789574 2003 Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls.
12782842 2003 Tonography demonstrates reduced facility of outflow of aqueous humor in myocilin mutation carriers.
12697062 2003 Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage.
12671463 2003 Penetrance and phenotype of the Cys433Arg myocilin mutation in a family pedigree with primary open-angle glaucoma.
12671462 2003 Septuagenarian's phenotype leads to ascertainment of familial MYOC gene mutation.
12615070 2003 Expression and characterization of the olfactomedin domain of human myocilin.
12522550 2003 Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin.
12504739 Myocilin glaucoma.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12470758 2002 A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation.
12447164 2002 Mutations in MYOC gene of Indian primary open angle glaucoma patients.
12442283 2002 Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.
12411077 2002 [Case control study on the risk factors of primary open angle glaucoma in China].
12362081 2002 Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa.
12356829 2002 TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma.
12215093 2002 Variations in the myocilin gene in patients with open-angle glaucoma.
12190780 2002 No evidence of association between GT/CA-repeat polymorphism in the GLC1A gene promoter and primary open-angle or exfoliation glaucoma.
12189160 2002 Founder TIGR/myocilin mutations for glaucoma in the Québec population.
12126543 2002 [Study on single nucleotide polymorphism of TIGR gene in primary open-angle glaucoma patients].
12060848 2002 Age independent expression of myocilin in the human trabecular meshwork.
12019210 2002 Optimedin: a novel olfactomedin-related protein that interacts with myocilin.
11992263 2002 Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene.
11923248 2002 Distribution of myocilin and extracellular matrix components in the juxtacanalicular tissue of human eyes.
11853639 2000 [To screen, clone and sequence TIGR gene mutation in Chinese patients with primary open- angle glaucoma].
11807810 2002 Myocilin is associated with mitochondria in human trabecular meshwork cells.
11774072 2002 Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
11773029 2002 Protein interactions with myocilin.
11773026 2002 In vitro localization of TIGR/MYOC in trabecular meshwork extracellular matrix and binding to fibronectin.
11595024 2001 Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.
11527946 2001 Characterization of myocilin-myocilin interactions.
11431441 2001 Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues.
11133859 2001 Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.
11053284 2000 Localization of myocilin to the golgi apparatus in Schlemm's canal cells.
11004290 2000 Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.
10990486 2000 Ultrastructural localization of myocilin in human trabecular meshwork cells and tissues.
10980537 2000 Novel mutations in the myocilin gene in Japanese glaucoma patients.
10916185 2000 Mutations in the third exon of the MYOC gene in spanish patients with primary open angle glaucoma.
10873982 2000 Genetic screening in a large family with juvenile onset primary open angle glaucoma.
10819638 2000 Novel mutation in the MYOC gene in primary open glaucoma patients.
10798654 2000 Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma.
10644174 2000 Novel TIGR sequence alteration Val53Ala.
10340788 Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma.
10330365 1999 Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea.
10196380 1999 Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
9863594 1998 Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.
9792882 1998 Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma.
9697688 1998 Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma.
9548973 1998 Characterization and comparison of the human and mouse GLC1A glaucoma genes.
9535666 1998 Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
9521427 1998 Novel mutations in the TIGR gene in early and late onset open angle glaucoma.
9510647 1997 TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma.
9497363 1998 Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells.
9490287 1998 Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis.
9446806 1998 Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A).
9361308 1997 Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma.
9345106 1997 Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan.
9328473 1997 Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma.
9280311 1997 Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin.
9169133 1997 A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping.
9005853 1997 Identification of a gene that causes primary open angle glaucoma.
8749308 1995 Isolation and characterization of cell-specific cDNA clones from a subtractive library of the ocular ciliary body of a single normal human donor: transcription and synthesis of plasma proteins.
8513321 1993 Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31.
8279471 1994 Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.